Development of high-resolution melting analysis for the detection of the MYD88 L265P mutation

• 作 者: WangCui-zhu;LiYun;ChenXing-xing;QianJun;LinJiang;ShaoRui;XueDi;QianWei;XiaoGao-fei;DengZhao-qun;YangJing;
• 机 构: Affiliated People's Hospital of Jiangsu University
• 出 处: 肿瘤多学科综合诊治新进展学术研讨会
• 发表日期: 2012年期

　　Objective Recurrent L265P mutation of myeloid differentiation primary response gene 88 (MYD88) has been identified in a proportion of diffuse large B-cell lymphoma (DLBCL) and chronic lymphocytic leukemia.The present study was aimed to establish a rapid,sensitive,and reliable method using high-resolution melting analysis (HRMA) to detect MYD88 L265P mutation in DLBCL.Methods The sensitivity of HRMA in the detection of MYD88 L265P mutation was evaluated.MYD88 L265P mutation was further screened in 120 patients with DLBCL.The results of HRMA were validated by direct DNA sequencing.Results For the detection of MYD88 L265P mutation,the reproducible maximal sensitivity of HRMA was 5%,higher than that obtained by direct DNA sequencing (25%).Heterozygous MYD88 L265P mutations were identified in 11 (9.2%) DLBCL cases,all of which were diagnosed as non-germinal-center B cell (non-GCB) DLBCL.Conclusions The HRMA assay is a rapid,sensitive,reliable,and high-throughput method to screen MYD88 L265P mutation and could be used in clinical diagnostic laboratories.